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Aliases for ACER2 Gene

Aliases for ACER2 Gene

  • Alkaline Ceramidase 2 2 3 5
  • N-Acylsphingosine Amidohydrolase 3-Like 2 4
  • Alkaline CDase 2 3 4
  • AlkCDase 2 3 4
  • ASAH3L 3 4
  • HaCER2 3 4
  • Acylsphingosine Deacylase 3-Like 4
  • Ceramide Hydrolase 3
  • EC 3.5.1.23 4
  • ALKCDase2 3

External Ids for ACER2 Gene

Previous HGNC Symbols for ACER2 Gene

  • ASAH3L

Previous GeneCards Identifiers for ACER2 Gene

  • GC09P019400

Summaries for ACER2 Gene

Entrez Gene Summary for ACER2 Gene

  • The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]

GeneCards Summary for ACER2 Gene

ACER2 (Alkaline Ceramidase 2) is a Protein Coding gene. Diseases associated with ACER2 include Corneal Dystrophy, Posterior Amorphous. Among its related pathways are Metabolism and sphingosine and sphingosine-1-phosphate metabolism. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and dihydroceramidase activity. An important paralog of this gene is ACER1.

UniProtKB/Swiss-Prot for ACER2 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.

Gene Wiki entry for ACER2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER2 Gene

Genomics for ACER2 Gene

Regulatory Elements for ACER2 Gene

Enhancers for ACER2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F019451 1 Ensembl ENCODE 5.7 +45.7 45714 1.0 MTA2 ASH2L TRIM22 JUNB BMI1 TBX21 ZBTB40 GABPA RELA EED HAUS6 ACER2 ENSG00000260912 PIR51132
GH09F019158 1.7 FANTOM5 Ensembl ENCODE 2.8 -244.4 -244379 5.6 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SCARNA8 PLIN2 ACER2 RPS6P10
GH09F019123 1.4 FANTOM5 ENCODE 3.3 -278.6 -278604 6.9 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 ZNF143 HAUS6 PLIN2 ACER2 GC09M019109
GH09F019407 1.1 ENCODE 0.8 +3.1 3090 2.8 HDGF ARID4B SIN3A GLI4 DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 ENSG00000273226 ACER2 PIR51132
GH09F019557 0.4 FANTOM5 1.5 +151.7 151671 0.1 SETDB1 SLC24A2 ACER2 GC09P019599 LOC105375988
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACER2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACER2 Gene

Chromosome:
9
Start:
19,406,011 bp from pter
End:
19,452,505 bp from pter
Size:
46,495 bases
Orientation:
Plus strand

Genomic View for ACER2 Gene

Genes around ACER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACER2 Gene

Proteins for ACER2 Gene

  • Protein details for ACER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QJU3-ACER2_HUMAN
    Recommended name:
    Alkaline ceramidase 2
    Protein Accession:
    Q5QJU3
    Secondary Accessions:
    • A2A3R8
    • Q569G5
    • Q5VZR7
    • Q71RD2

    Protein attributes for ACER2 Gene

    Size:
    275 amino acids
    Molecular mass:
    31309 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACER2 Gene

Post-translational modifications for ACER2 Gene

Other Protein References for ACER2 Gene

No data available for DME Specific Peptides for ACER2 Gene

Domains & Families for ACER2 Gene

Gene Families for ACER2 Gene

Protein Domains for ACER2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACER2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5QJU3

UniProtKB/Swiss-Prot:

ACER2_HUMAN :
  • Belongs to the alkaline ceramidase family.
Family:
  • Belongs to the alkaline ceramidase family.
genes like me logo Genes that share domains with ACER2: view

Function for ACER2 Gene

Molecular function for ACER2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269 PubMed:20089856}; Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate {ECO:0000269 PubMed:20089856}; pH dependence: Optimum pH is 7.5-9.0. {ECO:0000269 PubMed:20089856};
UniProtKB/Swiss-Prot CatalyticActivity:
N-acylsphingosine + H(2)O = a carboxylate + sphingosine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+). Mg(2+) or Mn(2+) have no effect on ceramidase activity.
UniProtKB/Swiss-Prot Function:
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.

Enzyme Numbers (IUBMB) for ACER2 Gene

Gene Ontology (GO) - Molecular Function for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0017040 ceramidase activity TAS --
GO:0071633 dihydroceramidase activity IDA 20628055
genes like me logo Genes that share ontologies with ACER2: view
genes like me logo Genes that share phenotypes with ACER2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACER2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACER2 Gene

Localization for ACER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACER2 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACER2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
lysosome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA 16940153
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 20089856
genes like me logo Genes that share ontologies with ACER2: view

Pathways & Interactions for ACER2 Gene

genes like me logo Genes that share pathways with ACER2: view

Interacting Proteins for ACER2 Gene

Gene Ontology (GO) - Biological Process for ACER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001953 negative regulation of cell-matrix adhesion IDA 18945876
GO:0006629 lipid metabolic process IEA --
GO:0006672 ceramide metabolic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 20628055
GO:0008284 positive regulation of cell proliferation IDA 16940153
genes like me logo Genes that share ontologies with ACER2: view

No data available for SIGNOR curated interactions for ACER2 Gene

Drugs & Compounds for ACER2 Gene

(8) Drugs for ACER2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Sphingosine Experimental Pharma 0
Stearic acid Experimental Pharma 0

(86) Additional Compounds for ACER2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with ACER2: view

Transcripts for ACER2 Gene

mRNA/cDNA for ACER2 Gene

(5) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACER2 Gene

Alkaline ceramidase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACER2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for ACER2 Gene

GeneLoc Exon Structure for
ACER2
ECgene alternative splicing isoforms for
ACER2

Expression for ACER2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACER2 Gene

This gene is overexpressed in Bladder (x12.1).

NURSA nuclear receptor signaling pathways regulating expression of ACER2 Gene:

ACER2

SOURCE GeneReport for Unigene cluster for ACER2 Gene:

Hs.41379

mRNA Expression by UniProt/SwissProt for ACER2 Gene:

Q5QJU3-ACER2_HUMAN
Tissue specificity: Highly expressed in placenta.
genes like me logo Genes that share expression patterns with ACER2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ACER2 Gene

Orthologs for ACER2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACER2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACER2 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia ACER2 34 35
  • 92 (n)
oppossum
(Monodelphis domestica)
Mammalia ACER2 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACER2 34 35
  • 91.03 (n)
rat
(Rattus norvegicus)
Mammalia Acer2 34
  • 89.94 (n)
mouse
(Mus musculus)
Mammalia Acer2 34 16 35
  • 88.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACER2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACER2 34 35
  • 80.85 (n)
lizard
(Anolis carolinensis)
Reptilia ACER2 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acer2 34
  • 76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10989 34
zebrafish
(Danio rerio)
Actinopterygii ACER2 35
  • 82 (a)
OneToOne
LOC100331179 34
  • 72.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta bwa 34 35
  • 57.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008729 34
  • 56.19 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_W02F12.2 34
  • 44.31 (n)
W02F12.2 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
Species where no ortholog for ACER2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACER2 Gene

ENSEMBL:
Gene Tree for ACER2 (if available)
TreeFam:
Gene Tree for ACER2 (if available)

Paralogs for ACER2 Gene

Paralogs for ACER2 Gene

(1) SIMAP similar genes for ACER2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ACER2 Gene

genes like me logo Genes that share paralogs with ACER2: view

Variants for ACER2 Gene

Sequence variations from dbSNP and Humsavar for ACER2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10113976 -- 19,417,036(+) TCAGG(A/G)TACAA intron-variant
rs10114121 -- 19,440,138(+) CTCTC(A/G)GCTGC intron-variant
rs10114958 -- 19,418,571(+) AAACC(A/G)TTATT intron-variant, upstream-variant-2KB
rs10116717 -- 19,413,416(+) CAACA(C/T)GGCGA intron-variant
rs10117316 -- 19,440,422(+) gaagg(C/T)gttta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACER2 Gene

Variant ID Type Subtype PubMed ID
dgv7470n100 CNV gain 25217958
esv1361979 CNV deletion 17803354
esv2738260 CNV deletion 23290073
esv3544635 CNV deletion 23714750
esv3619907 CNV gain 21293372
esv3619911 CNV gain 21293372
esv3619913 CNV gain 21293372
esv3619914 CNV loss 21293372
nsv1025392 CNV gain 25217958
nsv416048 CNV deletion 16902084
nsv466286 CNV gain 19166990
nsv524474 CNV gain 19592680
nsv613730 CNV gain 21841781
nsv831524 CNV gain+loss 17160897
nsv613733 CNV gain 21841781
nsv613732 CNV gain 21841781
nsv613731 CNV loss 21841781

Variation tolerance for ACER2 Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACER2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER2 Gene

Disorders for ACER2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACER2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal dystrophy, posterior amorphous
  • posterior amorphous corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ACER2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACER2

Genetic Association Database (GAD)
ACER2
Human Genome Epidemiology (HuGE) Navigator
ACER2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACER2
genes like me logo Genes that share disorders with ACER2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACER2 Gene

Publications for ACER2 Gene

  1. Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PMID: 18945876) Sun W. … Mao C. (FASEB J. 2009) 2 3 4 22 64
  2. Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). (PMID: 20089856) Sun W. … Mao C. (J. Biol. Chem. 2010) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P. (PMID: 16940153) Xu R. … Mao C. (FASEB J. 2006) 3 4 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for ACER2 Gene

Sources for ACER2 Gene

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